Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal pinna morphology (HP:0000377)

Grandparent Node:
Aplasia/Hypoplasia of the external ear (HP:0008772)

Parent Node:
Microtia (HP:0008551)

..Starting node
..Microtia, first degree (HP:0011266)

Term ID:

11266

Name:

Microtia, first degree

Synonym:

First-degree microtia

Definition:

Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.

Comments:

Reference:

HP:0011266

Genes and Diseases:

Child Nodes:

Sister Nodes:

Microtia, second degree (HP:0008569)

Microtia, third degree (HP:0011267)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011266	HP:0011266	Microtia, first degree	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18
HP:0011266	HP:0011266	Microtia, first degree	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0011266	HP:0011266	Microtia, first degree	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0011266	HP:0011266	Microtia, first degree	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0011266	HP:0011266	Microtia, first degree	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7

Genes (4) :FGF3 MED12 TBX15 TWIST2

Diseases (5) :OMIM:610706 OMIM:305450 OMIM:260660 OMIM:200110 OMIM:209885

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.